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- source_evidence_literature type ECO_0000212 NP343257.RASKJiXlCLoAg45DKkrpkvb-Ed_1j4coTQhkP_7_KEKbY130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP343257.RASKJiXlCLoAg45DKkrpkvb-Ed_1j4coTQhkP_7_KEKbY130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP343257.RASKJiXlCLoAg45DKkrpkvb-Ed_1j4coTQhkP_7_KEKbY130_provenance.
- NP343257.RASKJiXlCLoAg45DKkrpkvb-Ed_1j4coTQhkP_7_KEKbY130_assertion description "[Mutations of SLC2A2 were detected in historical FBS patients in whom some of the characteristic clinical features (hepatorenal glycogen accumulation, glucose and galactose intolerance, fasting hypoglycemia, a characteristic tubular nephropathy) and the effect of therapy were described for the first time.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP343257.RASKJiXlCLoAg45DKkrpkvb-Ed_1j4coTQhkP_7_KEKbY130_provenance.
- NP343257.RASKJiXlCLoAg45DKkrpkvb-Ed_1j4coTQhkP_7_KEKbY130_assertion evidence source_evidence_literature NP343257.RASKJiXlCLoAg45DKkrpkvb-Ed_1j4coTQhkP_7_KEKbY130_provenance.
- NP343257.RASKJiXlCLoAg45DKkrpkvb-Ed_1j4coTQhkP_7_KEKbY130_assertion SIO_000772 11810292 NP343257.RASKJiXlCLoAg45DKkrpkvb-Ed_1j4coTQhkP_7_KEKbY130_provenance.
- NP343257.RASKJiXlCLoAg45DKkrpkvb-Ed_1j4coTQhkP_7_KEKbY130_assertion wasDerivedFrom befree-2016 NP343257.RASKJiXlCLoAg45DKkrpkvb-Ed_1j4coTQhkP_7_KEKbY130_provenance.
- NP343257.RASKJiXlCLoAg45DKkrpkvb-Ed_1j4coTQhkP_7_KEKbY130_assertion wasGeneratedBy ECO_0000203 NP343257.RASKJiXlCLoAg45DKkrpkvb-Ed_1j4coTQhkP_7_KEKbY130_provenance.
- befree-2016 importedOn "2016-02-19" NP343257.RASKJiXlCLoAg45DKkrpkvb-Ed_1j4coTQhkP_7_KEKbY130_provenance.